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rs386833466

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCT;TCT) 0 common in clinvar
Make rs386833466(C;C)
Make rs386833466(C;TCT)
ReferenceGRCh38 38.1/141
Chromosome7
Position107776503
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833466
ebirs386833466
HLIrs386833466
Exacrs386833466
Varsomers386833466
Maprs386833466
PheGenIrs386833466
hapmaprs386833466
1000 genomesrs386833466
hgdprs386833466
ensemblrs386833466
gopubmedrs386833466
geneviewrs386833466
scholarrs386833466
googlers386833466
pharmgkbrs386833466
gwascentralrs386833466
openSNPrs386833466
23andMers386833466
23andMe allrs386833466
SNP Nexus

SNPshotrs386833466
SNPdbers386833466
MSV3drs386833466
GWAS Ctlgrs386833466
Max Magnitude0
ClinVar
Risk rs386833466(C;C)
Alt rs386833466(C;C)
Reference rs386833466(TCT;TCT)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107416948_107416950delAGAinsG
CLNSRC ClinVar
CLNACC RCV000049393.1,


[PMID 21394828] Update on SLC26A3 mutations in congenital chloride diarrhea.